• Gene id: 2068

Gene Summary

• Gene Symbol: ERCC2   Gene   UCSC   Ensembl
• Aliases: COFS2, EM9, TFIIH, TTD, TTD1, XPD
• Gene name: ERCC excision repair 2, TFIIH core complex helicase subunit
• Alternate names: general transcription and DNA repair factor IIH helicase subunit XPD, BTF2 p80, CXPD, DNA excision repair protein ERCC-2, DNA repair protein complementing XP-D cells, TFIIH 80 kDa subunit, TFIIH basal transcription factor complex 80 kDa subunit, TFIIH bas,
• Gene location: 19q13.32 (45370646: 45349836)     Exons: 24     NC_000019.10
• Gene summary(Entrez): The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex.
• OMIM: 126340

SNPs

rs13181

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

rs1618536

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45368348T>A
NC_000019.10   g.45368348T>C
NC_000019.9   g.45871606T>A
NC_000019.9   g.45871606T>C
NG_007067.2   g.7240A>T
NG_007067.2   g.7240A>G|SEQ=[T/A/C]|GENE=ERCC2

rs1799793

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45364001C>A
NC_000019.10   g.45364001C>T
NC_000019.9   g.45867259C>A
NC_000019.9   g.45867259C>T
NG_007067.2   g.11587G>T
NG_007067.2   g.11587G>A
NM_000400.4   c.934G>T
NM_000400.4   c.934G>A
NM_000400.3   c.934G>T
NM_000400.3   c.934G>A
NM_001130867.1  

Protein Summary

• Protein general information: P18074  
  • Name: General transcription and DNA repair factor IIH helicase subunit XPD (TFIIH subunit XPD) (EC 3.6.4.12) (Basic transcription factor 2 80 kDa subunit) (BTF2 p80) (CXPD) (DNA excision repair protein ERCC 2) (DNA repair protein complementing XP D cells) (TFII
  • Length: 760  
  • Mass: 86,909
• Sequence:

  MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSR
  TVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDT
  SLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKEL
  ARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARE
  TDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFC
  AERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFER
  FQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLL
  EMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA
  RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYG
  LMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLESEETL
  KRIEQIAQQL

• Structural information:
  • Protein Domains: Helicase (7-283)
  • Interpro: IPR006555  IPR010614  IPR002464  IPR010643  IPR014013   IPR006554  IPR027417  IPR013020  IPR001945  
  • Prosite: PS00690 PS51193
  • PDB: 5IVW 5IY6 5IY7 5IY8 5IY9 5OF4
  • PDBsum: 5IVW 5IY6 5IY7 5IY8 5IY9 5OF4
  • DIP: 644
  • STRING: ENSP00000375809
• Other Databases: GeneCards:  ERCC2  Malacards:  ERCC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000439	core TFIIH complex	IEA	cellular component
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0004003	ATP-dependent DNA helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005675	holo TFIIH complex	TAS	cellular component
GO:0005675	holo TFIIH complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	IDA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	NAS	biological process
GO:0006289	nucleotide-excision repair	IGI	biological process
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006370	7-methylguanosine mRNA capping	TAS	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006915	apoptotic process	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0007568	aging	IEA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008094	DNA-dependent ATPase activity	TAS	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0009650	UV protection	IGI	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0032289	central nervous system myelin formation	IEA	biological process
GO:0033683	nucleotide-excision repair, DNA incision	IMP	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0035315	hair cell differentiation	IMP	biological process
GO:0040016	embryonic cleavage	IEA	biological process
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0043249	erythrocyte maturation	IEA	biological process
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0048820	hair follicle maturation	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0060218	hematopoietic stem cell differentiation	IEA	biological process
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0071817	MMXD complex	IDA	cellular component
GO:1901990	regulation of mitotic cell cycle phase transition	IMP	biological process
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0004672	protein kinase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008353	RNA polymerase II carboxy-terminal domain kinase activity	IDA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000439	core TFIIH complex	IEA	cellular component
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0004003	ATP-dependent DNA helicase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005675	holo TFIIH complex	TAS	cellular component
GO:0005675	holo TFIIH complex	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	IDA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0006289	nucleotide-excision repair	IEA	biological process
GO:0006289	nucleotide-excision repair	NAS	biological process
GO:0006289	nucleotide-excision repair	IGI	biological process
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006370	7-methylguanosine mRNA capping	TAS	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006915	apoptotic process	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0007568	aging	IEA	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008026	ATP-dependent helicase activity	IEA	molecular function
GO:0008094	DNA-dependent ATPase activity	TAS	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0009411	response to UV	IEA	biological process
GO:0009650	UV protection	IEA	biological process
GO:0009650	UV protection	IGI	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0021510	spinal cord development	IEA	biological process
GO:0022405	hair cycle process	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0032289	central nervous system myelin formation	IEA	biological process
GO:0033683	nucleotide-excision repair, DNA incision	IMP	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0035315	hair cell differentiation	IEA	biological process
GO:0035315	hair cell differentiation	IMP	biological process
GO:0040016	embryonic cleavage	IEA	biological process
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0043249	erythrocyte maturation	IEA	biological process
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0048820	hair follicle maturation	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0060218	hematopoietic stem cell differentiation	IEA	biological process
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0071817	MMXD complex	IDA	cellular component
GO:1901990	regulation of mitotic cell cycle phase transition	IMP	biological process
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0004672	protein kinase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008353	RNA polymerase II carboxy-terminal domain kinase activity	IDA	molecular function
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005675	holo TFIIH complex	TAS	cellular component
GO:0005675	holo TFIIH complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005819	spindle	IDA	cellular component
GO:0006283	transcription-coupled nucleotide-excision repair	IDA	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0006289	nucleotide-excision repair	NAS	biological process
GO:0006289	nucleotide-excision repair	IGI	biological process
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II promoter	TAS	biological process
GO:0006370	7-methylguanosine mRNA capping	TAS	biological process
GO:0006915	apoptotic process	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0008094	DNA-dependent ATPase activity	TAS	molecular function
GO:0009650	UV protection	IGI	biological process
GO:0033683	nucleotide-excision repair, DNA incision	IMP	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0035315	hair cell differentiation	IMP	biological process
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0043139	5'-3' DNA helicase activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0071817	MMXD complex	IDA	cellular component
GO:1901990	regulation of mitotic cell cycle phase transition	IMP	biological process
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0019907	cyclin-dependent protein kinase activating kinase holoenzyme complex	IDA	cellular component
GO:0004672	protein kinase activity	IDA	molecular function
GO:0008094	DNA-dependent ATPase activity	IDA	molecular function
GO:0008353	RNA polymerase II carboxy-terminal domain kinase activity	IDA	molecular function

Diseases

Associated diseases	References
Mesothelioma	GAD: 16564556
Cancer (Adenoma)	GAD: 17164360
Cancer (basal cell)	GAD: 11375896
Cancer (brain)	GAD: 15834925
Cancer (Burkitt lymphoma)	GAD: 18608862
Cancer (colorectal)	GAD: 15523694
Cancer (endometrial)	GAD: 16284373
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 12883749
Cancer (gastric)	GAD: 19895736
Cancer (glaucoma)	GAD: 17242676
Cancer (glioma)	GAD: 16212814
Cancer (head and neck)	GAD: 20429839
Cancer (Hepatocellular)	GAD: 19919686
Cancer (laryngeal)	GAD: 19444904
Cancer (leiomyoma)	GAD: 20651370
Cancer (leukemia)	GAD: 16308313
Cancer (liver)	GAD: 16172101
Cancer (lung)	GAD: 16195237
Leukoplakia	GAD: 16324877
Cancer (pancreatic)	GAD: 18559563
Cancer (prostate)	GAD: 16638864
Cancer (rectal)	GAD: 20504250
Cancer (Renal cell)	GAD: 18711149
Cancer (sarcoma)	GAD: 16646069
Cancer (Squamous cell)	GAD: 11309287
Cancer (stomach)	GAD: 15802298
Cancer (testicular)	GAD: 15885892
Cancer (thyroid)	GAD: 16214924
Cancer (transitional cell)	GAD: 18320070
Brill-Symmers disease	GAD: 16492913
Cancer	GAD: 20047592
Cancer (Adenocarcinoma)	GAD: 19332728
Cancer (Biliary tract neoplasms)	GAD: 19443413
Cancer (bladder)	GAD: 16284380
Cancer (lymphoma)	GAD: 19954624
Cancer (melanoma)	GAD: 15709194
Cancer (meningioma)	GAD: 15824172
Cancer (mouth)	GAD: 18442012
Cancer (myeloma)	GAD: 17131345
Cancer (nasopharyngeal)	GAD: 17630853
Cancer (non-melanoma skin cancer)	GAD: 15936590
Cancer (oral premalignant lesions)	GAD: 17575242
Cancer (oral)	GAD: 16373199
Cancer (ovarian)	GAD: 16677755
Cancer (breast)	GAD: 16002061
Apoplexy	GAD: 17630376
Cardiovascular disease	GAD: 18043991
Hyperkeratosis	GAD: 12749816
Xeroderma pigmentosum	KEGG: H01428
Neural tube defects	GAD: 15887293
Cleft defects	GAD: 20634891
Macular degeneration	GAD: 20375340
Pterygium	GAD: 20431719
Myelodysplastic syndrome	GAD: 19027952
Neutropenia	GAD: 19074750
Hodgkin disease	GAD: 19280628
Burkitt lymphoma	GAD: 18608862
Multiple sclerosis	GAD: 20522537
Systemic lupus erythematosus (SLE)	GAD: 19055600
Bone diseases	GAD: 19434073
Alzheimer's disease	GAD: 16806697
Chronic renal failure	GAD: 21085059
Preeclampsia	GAD: 19592152
Endometriosis	GAD: 20391347
Male factor infertility	MIK: 24908732
Azoospermia	MIK: 17912469
Azoospermia	MIK: 18616887
Azoospermia	GAD: 18616887
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Disorders of nucleotide excision repair	KEGG: H00403
Cataract	GAD: 17637462
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Idiopathic azoospermia	MIK: 18616887
Idiopathic azoospermia	MIK: 17912469
Male idiopathic infertility	MIK: 24908732

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24908732	Male idiopathic infertility	rs13181, rs1618536, and rs1799793	Chinese	678 (351 males with idiopathic infertility, 327 normal fertile men as controls.)	Male infertility
18616887	Idiopathic azoospermia	ERCC1 polymorphisms 3 UTR (C8092A), Asn118Asn (G19007A), ERCC2 polymorphisms Asp312Asn (G-->A), Lys751Gln (A-->C)	Chinese	389 (202 infertile patients with idiopathic azoospermia, 187 fertile controls)	Male infertilityz	ERCC1 ERCC2
17912469	Idiopathic azoospermia	XRCC1 Arg194Trp and Arg399Gln, XPD Lys751Gln	Chinese	418 (171 idiopathic azoospermia patients, 247 normal-spermatogenesis fertile controls)	Male infertility	XRCC1 XPD
17912469	Idiopathic azoospermia	XRCC1 Arg194Trp and Arg399Gln, and XPD Lys751Gln	Chinese	418 (171 idiopathic azoospermia patients, 247 normal-spermatogenesis fertile controls)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq